{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3173478",
  "communityStandardTitle": [
    "NM_004168.4(SDHA):c.1977A>G (p.Pro659=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=721426[alleleid]",
        "alleleId": 721426,
        "preferredName": "NM_004168.4(SDHA):c.1977A>G (p.Pro659=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/715129",
        "RCV": [
          "RCV000887554",
          "RCV001013815",
          "RCV001158014",
          "RCV001158015",
          "RCV001158016"
        ],
        "variationId": 715129
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-256517-A-G",
        "id": "5-256517-A-G",
        "variant": "5:256517 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.256517A>G?assembly=hg19",
        "id": "chr5:g.256517A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.256402A>G?assembly=hg38",
        "id": "chr5:g.256402A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768693502",
        "rs": 768693502
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-256517-A-G?dataset=gnomad_r2_1",
        "id": "5-256517-A-G",
        "variant": "5:256517 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-256402-A-G?dataset=gnomad_r3",
        "id": "5-256402-A-G",
        "variant": "5:256402 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-256402-A-G?dataset=gnomad_r4",
        "id": "5-256402-A-G",
        "variant": "5:256402 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 256402,
          "referenceAllele": "A",
          "start": 256401
        }
      ],
      "hgvs": [
        "NC_000005.10:g.256402A>G",
        "CM000667.2:g.256402A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 256517,
          "referenceAllele": "A",
          "start": 256516
        }
      ],
      "hgvs": [
        "NC_000005.9:g.256517A>G",
        "CM000667.1:g.256517A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 309517,
          "referenceAllele": "A",
          "start": 309516
        }
      ],
      "hgvs": [
        "NC_000005.8:g.309517A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43162,
          "referenceAllele": "A",
          "start": 43161
        }
      ],
      "hgvs": [
        "NG_012339.1:g.43162A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2013,
          "referenceAllele": "A",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000264932.11:c.1977A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264932.6:p.Pro659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742749",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264932.11:c.1977A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004168.4:c.1977A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264932.6:p.Pro659="
          },
          "RefSeq": {
            "hgvs": "NP_004159.2:p.Pro659="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1839,
          "referenceAllele": "A",
          "start": 1838
        }
      ],
      "hgvs": [
        "ENST00000651543.1:c.*710A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499215.1:n.*710A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2092,
          "referenceAllele": "A",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000264932.10:c.1977A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264932.6:p.Pro659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2149,
          "referenceAllele": "A",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000503674.5:n.2149A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "A",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000504309.5:c.1734A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426514.1:p.Pro578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 367,
          "referenceAllele": "A",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000507522.1:n.367A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "A",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000509082.1:n.154A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "referenceAllele": "A",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000509564.1:c.350A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421911.1:n.350A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1871,
          "referenceAllele": "A",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000510361.5:c.1833A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427703.1:p.Pro611="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2724,
          "referenceAllele": "A",
          "start": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000511810.5:n.2724A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1932,
          "referenceAllele": "A",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000514027.5:n.1932A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1563,
          "referenceAllele": "A",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000515752.5:n.1563A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344902"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 424,
          "referenceAllele": "A",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000515815.5:c.424A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1657,
          "referenceAllele": "A",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "ENST00000617470.4:c.1542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484230.1:p.Pro514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826839438",
      "coordinates": [
        {
          "allele": "G",
          "end": 1966,
          "referenceAllele": "A",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001294332.1:c.1833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001281261.1:p.Pro611="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829481881",
      "coordinates": [
        {
          "allele": "G",
          "end": 2110,
          "referenceAllele": "A",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_004168.3:c.1977A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004159.2:p.Pro659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1867,
          "referenceAllele": "A",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_005248331.2:c.1734A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248388.1:p.Pro578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2041,
          "endIntronDirection": "+",
          "endIntronOffset": 1896,
          "referenceAllele": "A",
          "start": 2041,
          "startIntronDirection": "+",
          "startIntronOffset": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514072.1:c.1908+1896A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512374.1:n.1908+1896A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1798,
          "endIntronDirection": "+",
          "endIntronOffset": 1896,
          "referenceAllele": "A",
          "start": 1798,
          "startIntronDirection": "+",
          "startIntronOffset": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514073.1:c.1665+1896A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512375.1:n.1665+1896A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2041,
          "endIntronDirection": "+",
          "endIntronOffset": 1896,
          "referenceAllele": "A",
          "start": 2041,
          "startIntronDirection": "+",
          "startIntronOffset": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XR_925638.1:n.2041+1896A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122437"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827348754",
      "coordinates": [
        {
          "allele": "G",
          "end": 1867,
          "referenceAllele": "A",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001330758.1:c.1734A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317687.1:p.Pro578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "endIntronDirection": "+",
          "endIntronOffset": 1896,
          "referenceAllele": "A",
          "start": 1955,
          "startIntronDirection": "+",
          "startIntronOffset": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514072.2:c.1908+1896A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512374.1:n.1908+1896A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "endIntronDirection": "+",
          "endIntronOffset": 1896,
          "referenceAllele": "A",
          "start": 1712,
          "startIntronDirection": "+",
          "startIntronOffset": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_011514073.2:c.1665+1896A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512375.1:n.1665+1896A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3851,
          "referenceAllele": "A",
          "start": 3850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_017009685.2:c.*1446A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865174.1:n.*1446A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3705,
          "referenceAllele": "A",
          "start": 3704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XM_024446143.1:c.*1446A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301911.1:n.*1446A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4948,
          "referenceAllele": "A",
          "start": 4947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "XR_002956167.1:n.4948A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829481881",
      "coordinates": [
        {
          "allele": "G",
          "end": 2013,
          "referenceAllele": "A",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_004168.4:c.1977A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004159.2:p.Pro659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264932.11:c.1977A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004168.4:c.1977A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264932.6:p.Pro659="
          },
          "RefSeq": {
            "hgvs": "NP_004159.2:p.Pro659="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826839438",
      "coordinates": [
        {
          "allele": "G",
          "end": 1869,
          "referenceAllele": "A",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001294332.2:c.1833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001281261.1:p.Pro611="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827348754",
      "coordinates": [
        {
          "allele": "G",
          "end": 1770,
          "referenceAllele": "A",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010680",
      "geneNCBI_id": 6389,
      "geneSymbol": "SDHA",
      "hgvs": [
        "NM_001330758.2:c.1734A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317687.1:p.Pro578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718763"
    }
  ],
  "type": "nucleotide"
}